Silver-Russell syndrome and exclusion of uniparental disomy |
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Authors: | M L Ayala-Madrigal L G Shaffer M L Ramírez-Dueñas |
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Institution: | División de Genética, CIBO, IMSS, Guadalajara, Jalisco, Mexico;Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA |
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Abstract: | Recently, maternal uniparental disomy for the entire chromosome 7 was described in three of 25 Silver-Russell syndrome sporadic cases, yet the etiology of the remaining cases is unclear. Two cases with Silver-Russell syndrome and a balanced translocation involving the 17q25 had been reported. We looked for evidence of genomic imprinting due to uniparental disomy 17 in seven patients with sporadic Silver-Russell syndrome and their parents. Additionally, chromosomes 7, 8, 11 and 20 were studied. Uniparental disomy was ruled out for all these chromosomes in six of seven families; one family was informative only for chromosome 17. Notwithstanding our negative results, it is still possible that uniparental disomy plays a part in this syndrome. A mutation in a Mendelian gene in 17q25 could also account for the Silver-Russell syndrome etiology. |
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Keywords: | chromosome 17 genomic imprinting growth retardation Silver-Russell syndrome uniparental disomy |
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